SHH

GENERAL INFORMATION

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Gene name

SHH

Gene description

Sonic hedgehog

Protein class

Disease related genes
Predicted intracellular proteins
Predicted secreted proteins

Predicted localization

Intracellular,Secreted

Number of transcripts

2
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enhanced (adrenal gland, stomach, urinary bladder)
GTEx:Tissue enhanced (adrenal gland, liver, urinary bladder)

Protein evidence

Evidence at protein level

Protein localization

Most normal tissues displayed moderate or weak cytoplasmic positivity. Strong membranous staining was observed in renal tubules, gall bladder, lymphoid tissues and endometrial glands. Subsets of cells in CNS showed strong nuclear and/or nuclear membrane staining. Liver were negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
CAB018966
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (adrenal gland, stomach, urinary bladder)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (adrenal gland, liver, urinary bladder)

Organ

Expression



GENE INFORMATION

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Gene name

SHH (HGNC Symbol)

Synonyms

HHG1, HLP3, HPE3, MCOPCB5, SMMCI, TPT, TPTPS

Description

Sonic hedgehog (HGNC Symbol)

Entrez gene summary

This gene encodes a protein that is instrumental in patterning the early embryo. It has been implicated as the key inductive signal in patterning of the ventral neural tube, the anterior-posterior limb axis, and the ventral somites. Of three human proteins showing sequence and functional similarity to the sonic hedgehog protein of Drosophila, this protein is the most similar. The protein is made as a precursor that is autocatalytically cleaved; the N-terminal portion is soluble and contains the signalling activity while the C-terminal portion is involved in precursor processing. More importantly, the C-terminal product covalently attaches a cholesterol moiety to the N-terminal product, restricting the N-terminal product to the cell surface and preventing it from freely diffusing throughout the developing embryo. Defects in this protein or in its signalling pathway are a cause of holoprosencephaly (HPE), a disorder in which the developing forebrain fails to correctly separate into right and left hemispheres. HPE is manifested by facial deformities. It is also thought that mutations in this gene or in its signalling pathway may be responsible for VACTERL syndrome, which is characterized by vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, radial and renal dysplasia, cardiac anomalies, and limb abnormalities. Additionally, mutations in a long range enhancer located approximately 1 megabase upstream of this gene disrupt limb patterning and can result in preaxial polydactyly. [provided by RefSeq, Jul 2008]

Chromosome

7

Cytoband

q36.3

Chromosome location (bp)

155799986 - 155812273

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000164690 (version 78.38)

Entrez gene

6469

UniProt

Q15465 (UniProt - Evidence at protein level)

neXtProt

NX_Q15465

Antibodypedia

SHH antibodies


PROTEIN BROWSER

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ENST00000297261
 
ENST00000430104
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SHH-001 ENSP00000297261
ENST00000297261
Q15465
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Show » Show » 462 49.6 Yes 0
SHH-003 ENSP00000396621
ENST00000430104
C9JC48
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Show » Show » 169 18.9 No 0